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SAT0358 Joint Manifestation and Bone Changes in Patients with Wilsone Disease
  1. O. Sleglova1,
  2. Z. Marecek2
  1. 1Institute of Rheumatology, Prague 2
  2. 2Military Hospital, Prague 10, Czech Republic

Abstract

Background Wilsone disease (WD) is an autosomal recessive hereditary metabolic disorder leading to the pathologic accumulation of copper in various organs, especially in the brain and liver. The most frequent clinical manifestations consist of the liver form and neurological-psychiatric form. Problems with the joints are common and affect a high percentage of patients suffering from WD. Joint involvement in WD patients has not been studied in details so far. Treatment of WD is very effective. One approach involves treatment with penicilamin. Alternatively zinc can be used. Treatment must be life-long. On the other hand treatment of arthropathy is difficult and mostly not very successful. The aim was to determinate the location and types of changes in the affected joints in a set of patients diagnosed with WD and to determinate, if there is any relation between the type of treatment and joint manifestation.

Objectives To evaluate changes in clinical and image assessment of patients with WD after 5 year period.

Methods From the group of 41 patients with diagnose of WD was selected a group of 10 patients with arthropathy. They were evaluated for the history, clinical assessments, X-ray and sonography of the affect joins, bone densitometry of the hip and lumbar spine. The complete assessment was repeated after 5 years.

Results Ages ranged from 19 to 61 years, average age was 36 years. There were 8 women and 2 men. The knee was the most frequently involved joint. Other involvement joints (in decreasing order of frequency) were wrist, schoulders, metacarpofalangeal joints, ankles and lumbosacrale spine. Patients had involvement of 1-15 joints/patient. Physical finding consisted mainly of pain, pain on motion, stiffness and crepitus in affected joints. 5 patients had decrease range of motion in abnormal joints and 2 had hypermobility. During 5 years period 5 patients had arthritis (clinical and sonography detected) with duration from 1 months to 2 years. Radiographic changes included joint space narrowing, ostephytes, cysts, soft tissue calcification and bone fragmentation. 3 patients had osteoporosis and 3 osteopenia. After 5 years period there increase number of affected joints, radiographic changes and decrease T- score in the lumbar spine in these set of patients. More radiographic changes can be seen in patient treated with penicialamin than with zinc.

Conclusions Wilson’s disease is connected with morphological damage to the skeleton, premature arthrosis, arthritis and osteoporosis. Although all patients were treated by penicillamine or zinc and neurological-psychiatric and liver manifestation were stable there were progresion of artropathy. More changes have patients on penicilamin. Further studies with great number of patients are needed.

References

  1. Butler P, McIntyre N, Mistry PK: Molecular diagnosis of Wilson disease. Mol.Genet. Metabol. 2001; 72: 223-230.

  2. Menerey KA, Eider W, Brewer GJ, Braunstein EM, Schumacher HR, Fox IH. The arthropathy of Wilson’s disease: Clinical and pathologic features. J Rheumatol 1988; 15: 331-7.

  3. YU-zhang Wie, Xue-zhe Zhang, Xian-hao Xu: Radiologic study of 42 cases of Wilson’s disease. Skel Radiol 1985; 13: 114-119.

Acknowledgements Supported by the project (Ministry of Health, Czech Republic) for conceptual development of research organization 023728

Disclosure of Interest None Declared

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